Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

No abstract is available for this paper.

• Publication year

  2014

• Venue

  American Journal of Human Genetics

• Publication date

  2014-12-04

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/j.ajhg.2014.10.014PMID 25434003PMCID PMC4259969
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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